L288R (p.Leu288Arg) variant of BBS1 (BBSome complex member BBS1)
L288R (p.Leu288Arg) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bardet-Biedl syndrome; Bardet-Biedl syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L288R (p.Leu288Arg) variant details
- p.Leu288Arg
- rs2495776917
- ClinGen CA381461421
- ClinVar RCV003525327
- Pathogenic/Likely pathogenic
- Bardet-Biedl syndrome; Bardet-Biedl syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.67
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bardet-Biedl syndrome; Bardet-Biedl syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)